Incidental Mutation 'IGL00499:Tmem33'
ID6424
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem33
Ensembl Gene ENSMUSG00000037720
Gene Nametransmembrane protein 33
Synonyms2700052H22Rik, 5430406L04Rik, 1110006G02Rik, 1600019D15Rik, 2410089A21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL00499
Quality Score
Status
Chromosome5
Chromosomal Location67260565-67291461 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67284195 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 196 (Y196H)
Ref Sequence ENSEMBL: ENSMUSP00000124390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037918] [ENSMUST00000160352] [ENSMUST00000161369] [ENSMUST00000201979]
Predicted Effect probably damaging
Transcript: ENSMUST00000037918
AA Change: Y196H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042852
Gene: ENSMUSG00000037720
AA Change: Y196H

DomainStartEndE-ValueType
Pfam:UPF0121 1 247 9.8e-126 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160352
AA Change: Y196H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124766
Gene: ENSMUSG00000037720
AA Change: Y196H

DomainStartEndE-ValueType
Pfam:UPF0121 1 246 2.8e-126 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161369
AA Change: Y196H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124390
Gene: ENSMUSG00000037720
AA Change: Y196H

DomainStartEndE-ValueType
Pfam:UPF0121 7 245 1.8e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201979
SMART Domains Protein: ENSMUSP00000144531
Gene: ENSMUSG00000037720

DomainStartEndE-ValueType
Pfam:UPF0121 7 61 5.9e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik C A 10: 70,875,308 noncoding transcript Het
Abcb9 T C 5: 124,077,238 D480G possibly damaging Het
Adam26a A T 8: 43,568,859 N531K possibly damaging Het
AW554918 A T 18: 25,420,065 K542* probably null Het
Blk A G 14: 63,380,720 F246L probably damaging Het
Camk1 T C 6: 113,336,211 E292G probably benign Het
Ccdc88a C T 11: 29,499,341 T261I probably benign Het
Cep290 A T 10: 100,543,327 Q57L probably damaging Het
Cpsf1 A T 15: 76,600,216 H688Q probably benign Het
Cryz T C 3: 154,604,942 V13A possibly damaging Het
Dst A G 1: 34,290,423 K6858R probably damaging Het
Dync2h1 A T 9: 7,168,700 V371E possibly damaging Het
Eps8 C A 6: 137,522,888 E181* probably null Het
Flt4 T C 11: 49,635,261 I796T probably damaging Het
Gmps A G 3: 64,014,367 N597S probably benign Het
Itgav T A 2: 83,802,995 M1011K probably damaging Het
Kif16b A G 2: 142,857,324 M112T probably damaging Het
Lig1 T C 7: 13,298,830 probably null Het
Lrrc30 A G 17: 67,632,039 F182S probably damaging Het
Oxsm A T 14: 16,242,076 M231K probably damaging Het
Pnisr T C 4: 21,870,407 probably null Het
Rsrc1 A T 3: 67,082,600 probably benign Het
Setd1b A T 5: 123,158,747 probably benign Het
Tbx6 A G 7: 126,781,529 Y8C probably damaging Het
Traf5 T C 1: 192,057,174 D96G possibly damaging Het
Tsc22d1 T A 14: 76,418,917 D945E probably damaging Het
Tubb2b T C 13: 34,128,346 I155V probably benign Het
Usp13 T A 3: 32,881,411 Y328N probably damaging Het
Usp17lc G A 7: 103,418,466 D323N probably damaging Het
Usp17lc G A 7: 103,418,465 M322I probably damaging Het
Zfp341 C T 2: 154,634,231 T446I probably damaging Het
Zfp407 A G 18: 84,561,752 L412P probably damaging Het
Zfp521 T A 18: 13,939,120 D21V probably benign Het
Zranb1 A G 7: 132,982,504 probably benign Het
Other mutations in Tmem33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02076:Tmem33 APN 5 67286103 missense probably damaging 1.00
IGL03106:Tmem33 APN 5 67263796 missense probably damaging 1.00
commonplace UTSW 5 67264459 critical splice donor site probably null
R0573:Tmem33 UTSW 5 67264260 intron probably benign
R0839:Tmem33 UTSW 5 67264308 missense probably damaging 1.00
R1129:Tmem33 UTSW 5 67264460 splice site probably null
R1438:Tmem33 UTSW 5 67267291 splice site probably null
R1692:Tmem33 UTSW 5 67268554 missense probably null 0.57
R4513:Tmem33 UTSW 5 67286125 missense probably benign 0.02
R4763:Tmem33 UTSW 5 67286136 missense probably benign 0.22
R6298:Tmem33 UTSW 5 67268551 nonsense probably null
R6673:Tmem33 UTSW 5 67286125 missense probably benign 0.02
R6813:Tmem33 UTSW 5 67264459 critical splice donor site probably null
R7186:Tmem33 UTSW 5 67263787 missense possibly damaging 0.68
R7378:Tmem33 UTSW 5 67286133 missense probably benign
Posted On2012-04-20